Atlas of Genetics and Cytogenetics in Oncology and Haematology

Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off
of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly
withdrawn its commitment to support the Atlas).
I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology,
or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be
interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a
consortium of various actors could be the solution (I am myself trying to find partners).
Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.orgDonations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

Donate (in Euros)

Donate (in US Dollars)

Retinoblastoma

Identity

Inheritance

predisposition to retinoblastoma is transmitted as an autosomal dominant trait; it is caused by mutations in the RB1 gene; penetrance and expressivity depend on the nature of the predisposing mutational change; there is also a non-hereditary form of retinoblastoma (mostly in children with isolated unilateral retinoblastoma) that is caused by RB1-mutations confined to somatic cells

Clinics

Phenotype and clinics

retinoblastoma in early childhood: white reflexes in one or both eyes or strabismus usually are the first signs indicating this malignant eye tumour; in most children with the hereditary retinoblastoma, both eyes are affected by multiple tumour foci (bilateral multifocal retinoblastoma)

adults (most often relatives of patients with retinoblastoma) may show retinal scars indicating regressed retinoblastomas or retinomas (link) (non-progressive tumours).

in addition to retinoblastoma, children with cytogenetic deletions involving 13q14 may show developmental delay and dysmorphic signs.

brain tumours (pinealoma in particular some patients also show multiple benign tumours of adipose tissue (lipoma).

Treatment

retinoblastomas can be cured by (depending on size and location): local therapy (photocoagulation, cryotherapy, radiation), combined systemic and local therapy, or enucleation of the eye; surveillance : following the diagnosis of retinoblastoma, repeated examinations under general anesthesia are required for early diagnosis of new tumour foci; up to now, no screening for second primary neoplasms.

Prognosis

most often, treatment of retinoblastoma is very effective and, therefore, death from retinoblastoma is rare; however, life span in patients that develop second primary neoplasms is reduced (cumulative mortality at age 40: 6.4% in bilateral patients without radiotherapy, 1.5% in patients with unilateral retinoblastoma).

and location : mutations have been found in 25 of the 27 coding exons and in promoter elements.

Genotype-phenotype correlation : most mutant RB1-alleles show premature termination codons; typically, these mutant alleles are associated with almost complete penetrance (>95%) and high expressivity (more than 6 individual retinoblastoma foci per individual and, therefore, most often involvement of both eyes); some rare mutant alleles that code for proteins with retention of parts of the functions of the wild-type prote in or that result in diminished amounts of wild-type transcript are associated with incomplete penetrance (<75%) and low expressivity (mean of less than 2 tumor foci).